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[1]余秀蓉,刘伊楚,兰风华,等.一个Leber先天性黑蒙症家系的分子诊断与产前诊断[J].医学研究与战创伤救治(原医学研究生学报),2021,23(6):619-622.[doi:10.3969/j.issn.1672-271X.2021.06.013]
　YU Xiu-rong,LIU Yi-chu,LAN Feng-hua,et al.Molecular diagnosis and prenatal diagnosis in a Leber congenital amaurosis family[J].JOURNAL OF MEDICALRESEARCH —COMBAT TRAUMA CARE,2021,23(6):619-622.[doi:10.3969/j.issn.1672-271X.2021.06.013]
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一个Leber先天性黑蒙症家系的分子诊断与产前诊断()
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《医学研究与战创伤救治》（原医学研究生学报）[ISSN:1672-271X/CN:32-1713/R]

卷:
第23卷
期数:
2021年6期
页码:
619-622
栏目:
临床研究
出版日期:
2021-12-15

文章信息/Info

Title:
Molecular diagnosis and prenatal diagnosis in a Leber congenital amaurosis family
作者:
余秀蓉; 刘伊楚; 兰风华; 曾健; 林娟; 王志红
作者单位：350025福州，厦门大学附属东方医院(解放军联勤保障部 队第九○○医院)/福建医科大学福总临床医学院基础医学实验室医学遗传中心(余秀蓉、兰风华、曾健、林娟、王志 红)，检验科（刘伊楚）
Author(s):
YU Xiu-rong;  LIU Yi-chu;  LAN Feng-hua;  ZENG Jian;  LIN Juan;  WANG Zhi-hong
(1. Center for Medical Genetics, Laboratory of Basic Medicine, 2.Department of Clinical Laboratory, Dongfang Hospital of Xiamen University Medical College/Fuzong Clinical College of Fujian Medical University/900th Hospital of the Joint Logistics Team，PLA，Fuzhou 350025, Fujian, China)
关键词:
Leber先天性黑蒙症; 眼-肾综合征; 二代测序; IQCB1基因; 产前诊断
Keywords:
Leber congenital amaurosis;  Senior-Loken syndrome;  next generation sequencing;  IQCB1 gene;  prenatal diagnosis
分类号:
R774.1
DOI:
10.3969/j.issn.1672-271X.2021.06.013
文献标志码:
A
摘要:
目的对1个Leber先天性黑蒙症（LCA）家系进行基因突变分析，并对该家系中的1个高危胎儿进行产前分子诊 断。方法采集该家系先证者及其父母外周血，使用二代测序方法查找先证者致病基因及突变位点，并用Sanger测序 验证该突变位点。明确先证者及其父母基因型后，采集羊水标本，通过PCR扩增及直接测序的方法进行产前分子诊断 。结果该家系先证者为IQCB1基因c.1090C＞T纯合突变。父母均为IQCB1基因c.1090C＞T杂合突变。胎儿携带与父母 相同的c.1090C＞T杂合突变。结论建立了对LCA进行分子诊断和产前分子诊断的方法，并成功应用于一个LCA家系， 为该家系进行遗传咨询和指导生育。
Abstract:
ObjectiveTo identify the mutation in IQCB1 gene and provide prenatal diagnosis for a Leber congenital amaurosis (LCA) family.MethodsThe disease-causing mutation in the proband was discovered by next generation sequencing. To confirm this mutation, the genomic DNA of the proband and his parents was analyzed by Sanger sequencing. Prenatal diagnosis was preformed by amniocentesis sampling and direct sequencing of the PCR product after genotyping the proband and the parents.ResultsIn the family, the affected proband was a homozygote for the mutation c.1090C＞T in the IQCB1 gene and his parents were heterozygous for the mutation. The fetus carried the same heterozygous mutation with the parents.ConclusionMethods for molecular diagnosis and prenatal molecular diagnosis of LCA were established and successfully applied to a LCA family for genetic counseling and reproduction guidance.

参考文献/References:

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更新日期/Last Update: 2021-12-15